Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Swati TomarDavid C KlinzingChing Kit Chen Louis Hanqiang Gan Tia Moscarello Nicolette Chun Euan A Ashley Roger Sik Yin Foo

Published in: Circulation. Genomic and precision medicine (2022)

Our findings highlight the incidence of disease-related variants in inherited cardiac conditions and emphasize the value of large-scale sequencing in specific ancestries. Follow-up detailed phenotyping and analysis of pedigrees are crucial because assigning pathogenicity will significantly affect clinical management for individuals and their family members.

Keyphrases

copy number
left ventricular
risk factors
high throughput
single cell
escherichia coli
staphylococcus aureus
cystic fibrosis
genome wide
pseudomonas aeruginosa